成人心-手综合征伴发肾囊肿及高血糖高渗状态一例

Holt-Oram syndrome complicated with renal cyst and hyperglycemic hyperosmolar status: one case report

心-手综合征又称Holt-Oram综合征,是一种罕见的常染色体显性遗传性疾病,其以先天性心脏病合并上肢畸形为主要临床表现,部分致病基因为TBX5。由于外显性差异,其临床表现多种多样。该文报道1例46岁男性心-手综合征患者,其不但存在双上肢畸形及房间隔缺损,还伴有巨大肾囊肿。随着病情进展,患者出现高血糖高渗状态,不能排除成人起病的青少年糖尿病5型。经行肾囊肿穿刺引流术,口服二甲双胍、格列美脲增强胰岛素敏感性,皮下注射胰岛素控制血糖,行二尖瓣机械瓣膜置换及三尖瓣成形术治疗后,患者病情得到控制,情况良好。

Holt-Oram syndrome is a rare autosomal dominant disorder mainly characterized by congenital cardiac defects complicated with upper arm skeletal abnormalities. The disease gene has been shown to be TBX5 in certain cases. Due to genetic heterogeneity,clinical manifestations of this syndrome significantly vary. Here we reported one 46-year-old male case of Holt-Oram syndrome. He presented with upper arm skeletal abnormalities complicated with atrial septal defects and giant renal cyst. Over disease progression,the patient tended to have hyperglycemic hyperosmolar status. The possibility of maturity-onset diabetes of the young5（ MODY5） was considered. He underwent puncture drainage of the renal cyst,orally administered with metformin and glimepiride to increase insulin sensitivity,subcutaneous administration of insulin was delivered to control blood glucose,mechanical mitral valve replacement and tricuspid annuloplasty. The patient became stable and the severity of disease was properly controlled.